Variant report

Variant	rs6450519
Chromosome Location	chr5:58768624-58768625
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1120303	0.81[AMR][1000 genomes]
rs16877169	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889869	0.85[AMR][1000 genomes]
rs16889878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889892	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs16889913	1.00[CHB][hapmap]
rs17728654	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs17795596	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17795692	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs17796040	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17796399	0.92[EUR][1000 genomes]
rs1824154	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1902610	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2081092	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs35450986	0.84[EUR][1000 genomes]
rs4604141	0.94[EUR][1000 genomes]
rs6871710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73097336	0.83[ASN][1000 genomes]
rs7711639	0.86[AFR][1000 genomes]
rs7729912	1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs7738023	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9687424	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1028022	chr5:58673780-58786468	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv598254	chr5:58715782-58923601	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv881706	chr5:58730111-58865857	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv881707	chr5:58741491-58784102	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58754600-58780200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:58756800-58775400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:58756800-58775600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:58762000-58778800	Weak transcription	Aorta	Aorta
5	chr5:58762600-58780600	Weak transcription	Fetal Lung	lung
6	chr5:58766000-58774800	Weak transcription	Brain Substantia Nigra	brain
7	chr5:58767200-58771000	Weak transcription	Psoas Muscle	Psoas
8	chr5:58767400-58768800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:58767600-58769600	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:58767600-58769600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:58768200-58769000	Enhancers	A549	lung
12	chr5:58768200-58772200	Weak transcription	Fetal Brain Male	brain
13	chr5:58768400-58769400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:58768600-58768800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:58768600-58769800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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